{"orpha":3027,"name":"Caudal regression syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Caudal dysgenesis syndrome","Caudal dysplasia","Caudal regression sequence"],"definition":"A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3027/","orphanet_url":"https://www.orpha.net/en/disease/detail/3027","names":{"fr":{"name":"Syndrome de régression caudale","synonyms":["Dysplasie caudale","Syndrome de dysgénésie caudale","Séquence de régression caudale"],"definition":"Malformation congénitale rare des segments inférieurs de la colonne vertébrale caractérisée par un cône tronqué haut situé avec aplasie ou hypoplasie du sacrum et de la colonne lombaire. Des malformations des systèmes gastro-intestinal, génito-urinaire, squelettique et nerveux sont fréquemment associées."},"de":{"name":"Kaudales Regressionssyndrom","synonyms":["Dysplasie, kaudale","Kaudale Regressionssequenz"],"definition":"Eine seltene angeborene Fehlbildung der unteren Wirbelsäulensegmente, die durch einen abgestumpften Konus und eine Aplasie oder Hypoplasie des Kreuzbeins gekennzeichnet ist. Häufig werden gleichzeitig bestehende Anomalien des Magen-Darm-Trakts, des Urogenitalsystems, des Muskel-Skelett-Systems und des Nervensystems beschrieben."},"es":{"name":"Síndrome de regresión caudal","synonyms":["Displasia caudal","Secuencia de regresión caudal","Síndrome de disgenesia caudal"],"definition":"Es una malformación congénita poco frecuente de los segmentos inferiores de la columna caracterizada por un cono medular truncado y aplasia o hipoplasia del sacro. Con frecuencia se describen malformaciones coexistentes del sistema digestivo, genitourinario, musculoesquelético y nervioso."},"it":{"name":"Sindrome da regressione caudale","synonyms":["Displasia caudale","Sequenza da regressione caudale","Sindrome da disgenesia caudale"]},"nl":{"name":"Caudale regressie-syndroom","synonyms":["Caudale dysgenesie-syndroom","Caudale dysplasie","Caudale regressie-sequentie"],"definition":"Een zeldzame congenitale malformatie van onderste segmenten van wervelkolom, gekenmerkt door een hooggelegen en getrunceerde conus medullaris met hetzij aplasie hetzij hypoplasie van sacrum en lumbale wervelkolom. Co-existente malformaties van gastro-intestinaal stelsel, urogenitaal stelsel, skelet en zenuwstelsel worden vaak beschreven."},"pt":{"name":"Síndrome de regressão caudal","synonyms":["Displasia caudal","Síndrome de disgenésia caudal"],"definition":"Malformação congénita rara dos segmentos medulares inferiores, caracterizada por aplasia ou hipoplasia do sacro e da coluna lombar. Malformações coexistentes do sistema gastrointestinal, geniturinário, esquelético e nervoso são comummente descritas."},"pl":{"name":"Sekwencja regresji kaudalnej","synonyms":["Dysplazja kaudalna","Zespół agnezji krzyżowej","Zespół regresji krzyżowej","Zespół regresji kaudalnej"],"definition":"Rzadka wrodzona wada rozwojowa dolnych odcinków kręgosłupa charakteryzująca się ściętym stożkiem i aplazją lub hipoplazją kości krzyżowej. Często opisuje się współistniejące nieprawidłowości układu pokarmowego, moczowo-płciowego, mięśniowo-szkieletowego i nerwowego."},"cs":{"name":"Syndrom kaudální regrese","synonyms":["Kaudální dysplázie","Syndrom sakrální ageneze"]},"uk":{"name":"Синдром каудальної регресії","synonyms":["Синдром каудального дисгенезу","Каудальна дисплазія","Послідовність каудальної регресії"],"definition":"A rare congenital malformation of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described."},"zh":{"name":"尾部退化综合征","synonyms":["骶骨退化综合征"]},"tr":{"name":"Kaudal regresyon dizisi","synonyms":["Kaudal displazi","Sakral agenezi sendromu","Sakral regresyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"600145","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"269997265"},{"source":"MONDO","code":"0017607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0300948","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6007","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10059387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1773,"name":"Sacrococcygeal dysgenesis association","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":444941,"name":"Caudal regression-sirenomelia spectrum","classifications":[147,156,182,185,233]},{"orpha":645202,"name":"Closed spinal dysraphism","classifications":[147,156,181]},{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"FUZ","name":"fuzzy planar cell polarity protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21840926[PMID]","hgnc":"26219","ensembl":"ENSG00000010361","omim":"610622","loci":["19q13.33"]},{"symbol":"VANGL1","name":"VANGL planar cell polarity protein 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17409324[PMID]","hgnc":"15512","ensembl":"ENSG00000173218","omim":"610132","loci":["1p13.1"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.75,"area":"Australia","status":"Validated","source":"20734338[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011867","label":"Abnormality of the wing of the ilium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008517","label":"Aplasia/Hypoplasia of the sacrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003199","label":"Decreased muscle mass","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008479","label":"Hypoplastic vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}